Lab Anatomical Pathology – Neurogenetics
PathWest Laboratory Medicine - Royal Perth Hospital
WA
Test Name mtm
Genes tested AR
ATXN1
ATXN2
ATXN3
ATXN7
DMPK
GJB1
MAPT
MFN2
MPZ
PMP22
SOD1
SPAST
CAPN3
ACTA1
CAV3
CLCN1
DCX
DMD
FKRP
GFAP
KRIT1
MECP2
MTM1
MYOT
NOTCH3
PAFAH1B1
PYGM
RYR1
SCN4A
TOR1A
TPM3
CRYAB
LDB3
Test Description Bi-directional sequencing of the entire coding region.

Method Type sequencing
Method Comment
Sample Required 10ml EDTA or 1ug DNA.
RCPA guideline re sample requirements
Turn around 2 months